Last update 08 May 2025

Early-Onset Ataxia With Oculomotor Apraxia and Hypoalbuminemia

Basic Info

Synonyms
AOA, AOA1, AOA1 (ataxia oculomotor apraxia type 1)
+ [25]
Introduction
An autosomal recessive cerebellar ataxia caused by mutation(s) in the APTX gene, encoding aprataxin. It is characterized by peripheral axonal neuropathy, oculomotor apraxia, and hypoalbuminemia.

Analysis

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